FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations. 29801479 2018
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE In conclusion, we report for the first time that these novel pathogenic mutations of FKBP10 can lead to the extremely rare type XI OI without contractures, which expands the genotypic spectrum of OI. 27762305 2017
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 CausalMutation disease CLINVAR Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 27362741 2016
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE In another branch, a child with moderate type XI OI has a homozygous FKBP10 mutation (c.1271_1272delCCinsA). 22718341 2012
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 Biomarker disease CTD_human